V87F (p.Val87Phe) variant of GFAP (Glial fibrillary acidic protein)
V87F (p.Val87Phe) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
V87F (p.Val87Phe) variant details
- p.Val87Phe
- rs267607518
- ClinGen CA8609075
- ClinVar RCV002042292
- ExAC rs267607518
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.10
- CADD 25.40
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)